Q30H (p.Gln30His) variant of SDHB (P21912)
Q30H (p.Gln30His) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
Q30H (p.Gln30His) variant details
- p.Gln30His
- rs749662497
- ClinGen CA338228363
- NCI-TCGA Cosmic COSV6496
- ClinVar RCV003781645
- Uncertain significance
- Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- AlphaMissense 0.22
- MetaLR 0.84
- MetaSVM 0.60
- PolyPhen-2 0.94
- SIFT 0.30
- MutPred 0.24
- ClinVar: Uncertain significance (Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocyto)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following… (PMID 22685257)
- Cited in: Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor… (PMID 23852704)